title: Early-onset or rapidly progressive scoliosis in children: check the eyes!
abstract: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the absence of conjugate horizontal eye movements, and progressive scoliosis developing in childhood and adolescence, caused by mutations in the ROBO3 gene which has an important role in axonal guidance and neuronal migration. We describe two female children aged 12 years and 18 months, with progressive scoliosis, in whom the neurological examination showed absent conjugate horizontal eye movements, but preserved vertical gaze and convergence. Cerebral Magnetic resonance imaging findings included pontine hypoplasia, absent facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft, while Diffusion tensor imaging (DTI) maps showed the absence of decussating ponto-cerebellar fibers and superior cerebellar peduncles. Somatosensory and motor evoked potential studies demonstrated ipsilateral sensory and motor responses. The diagnosis was confirmed by the identification of bi-allelic mutations in the ROBO3 gene.
authors.affiliation: Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland. Electronic address: mary.kurian@hcuge.ch.
authors.forename: M
authors.initials: M
authors.lastname: Kurian
authors.forename: C
authors.initials: C
authors.lastname: Megevand
authors.forename: R
authors.initials: R
authors.lastname: De Haller
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: C
authors.initials: C
authors.lastname: Boex
authors.forename: A
authors.initials: A
authors.lastname: Truffert
authors.forename: A
authors.initials: A
authors.lastname: Kaelin
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.forename: C M
authors.initials: CM
authors.lastname: Korff
mesh_terms: D002648:Child; D038524:Diffusion Magnetic Resonance Imaging; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008526:Medulla Oblongata / Q000473:pathology; D009154:Mutation / Q000235:genetics; D015835:Ocular Motility Disorders / Q000150:complications* / Q000175:diagnosis; D011149:Pons / Q000473:pathology; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics; D012600:Scoliosis / Q000150:complications* / Q000175:diagnosis*; D000097905:Roundabout Proteins
chemical_list: D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins
keywords: Gaze palsy; Horizontal; Scoliosis